Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mercury and selenium content in the hair of 13 ALS cases was studied by neutron activation analysis. The total mercury content of the hair was 3.70 +/- 2.73 ppm (mean +/- standard deviation) in the ALS patients as a whole, 4.46 +/- 3.16 ppm in the ALS patients from the middle of Kii Peninsula, and 2.49 +/- 1.38 ppm in the ALS patients from other region. As the comparison, mercury content was 2.43 +/- 0.79 ppm in the patients with Parkinsonism, and 2.10 +/- 1.13 ppm in the patients with multiple sclerosis (MS). The selenium content of the hair was 0.36 +/- 0.35 ppm for all ALS patients as a whole, 0.45 +/- 0.25 ppm in the ALS patients from the middle of the Kii Peninsula, and 0.21 +/- 0.47 ppm in the ALS from other region. There were no cases with higher values than mean values of control group, except one case from other regions. It is well known that the selenium decreases the toxicity of mercury in the human body. From these data mercury with low content of selenium might be one of the environmental factors which are thought to be involved in producing of ALS.
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PMID:[Amyotrophic lateral sclerosis and mercury--preliminary report]. 208 36

In cases of Parkinson's disease, a high incidence of dementia and simultaneous pathologic changes of Alzheimer's type have been reported. X-ray CT and MRI have such good spatial resolution that they can be expected to be useful for evaluation of brain atrophy. Positron emission tomography (PET) used with 18F-2-deoxy-2-fluoro-D-glucose is considered to reflect regional function. By these techniques, brain atrophy and local cerebral metabolic rate of glucose (LCMR-glc) in patients with Parkinsonism with dementia was studied, and also compared with age-matched normal controls and senile dementia of Alzheimer type. In seven cases of Parkinson's disease with dementia, LCMRs-glc were statistically decreased in all regions in comparison with ten normal controls. LCMRs-glc in six Parkinson's disease without dementia were higher than those of demented Parkinson's disease, but significantly lower than normal controls in all regions except basal ganglia. Some aged normal controls presented cortical atrophy and a significant difference could not be seen in evaluation by MRI among these three groups. There was also no correlation between LCMR-glc and cortical atrophy. There was no significant difference of LCMR-glc between six Guamnian cases of Parkinsonism-Dementia complex (PD complex) without ALS and four cases of PD complex with ALS, and these values were significantly lower than five Guamanian and ten Caucasian normal controls. In PD complex with and without ALS, remarkable cortical atrophy and ventricular dilatation were recorded in comparison with normal controls, and correlation between decrement of LCMR-glc and cortical atrophy was indicated in frontal, parietal and temporal lobe. In Parkinson's disease with dementia and PD complex in Guam, LCMRs-glc in all regions of brain were generally lower than normal controls. These findings were different from Alzheimer's disease in which LCMR-glc have been reported to be low especially in cerebral cortex. On the other hand, cortical atrophy and ventricular dilatation evaluated by MRI and CT was apparent in PD complex, but these changes were not remarkable in Parkinson's disease. Cortical atrophy did not always correlate with the decrease of LCMR-glc and changes of LCMR-glc could reflect clinical signs such as Parkinsonism and dementia. Both PET as a functional imaging method and MRI, CT as an anatomical imaging method are useful to access the study of these diseases.
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PMID:[Comparison study of positron emission tomography, X-ray CT and MRI in parkinsonism with dementia]. 279 56

Owing to the frequent observation of poverty of movements, facial hypomimia and balance impairment, amyotrophic lateral sclerosis (ALS) variant with predominance of upper motor neuron involvement (UMN-ALS) is prone to be diagnosed with Parkinsonism. A clinical assessment, including the velocity-dependent stretch response test to differentiate between pyramidal and extrapyramidal stiffness; the Unified Parkinson's Disease Rating Scale and the Berg Balance Scale to assess degree of bradykinesia and postural instability; and (123)I-FP-CIT scintigraphy evaluation to investigate the nigrostriatal circuit involvement, were carried out to characterize Parkinson-like features in UMN-ALS patients. Sixteen UMN-ALS patients were included in the study. The velocity-dependent stretch response indicated spasticity in all the muscles tested. The degree of stiffness was found to be related to bradykinesia and postural instability. Eleven patients (70%) showed a reduction in striatal (123)I-FP-CIT uptake found to be related to disease duration and patients' ages but not to scores of the functional scales. Slowness of movements and postural instability noted in our patients could be mostly attributed to spasticity. The lack of any correlation between UPDRS or BBS scores and the degree of nigrostriatal impairment on DaTSCAN seems to disprove nigrostriatal circuit involvement in these extrapyramidal-like features.
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PMID:Parkinson-like features in ALS with predominant upper motor neuron involvement. 2187 Sep 99

Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATXN2 with autosomal dominant ALS. These findings support our previous conjectures based on population studies on the role of large normal ATXN2 alleles as the source for new mutations being involved in neurodegenerative pathologies associated with CAG expansions. The de novo mutations expanded from ALS/SCA2 non-risk alleles as proven by meta-analysis method. The ALS risk was associated with SCA2 alleles as well as with intermediate CAG lengths in the ATXN2. Higher risk for ALS was associated with pathogenic CAG repeat as revealed by meta-analysis.
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PMID:De novo mutations in ataxin-2 gene and ALS risk. 2393 47

Astrocytes are the most abundant non-neuronal glial cells in the brain. Once relegated to a mere supportive role for neurons, contemporary dogmas ascribe multiple active roles for these cells in central nervous system (CNS) function, including maintenance of optimal glutamate levels in synapses. Regulation of glutamate levels in the synaptic cleft is crucial for preventing excitotoxic neuronal injury. Glutamate levels are regulated predominantly by two astrocytic glutamate transporters, glutamate transporter 1 (GLT-1) and glutamate aspartate transporter (GLAST). Indeed, the dysregulation of these transporters has been linked to several neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD) and Parkinson's disease (PD), as well as manganism, which is caused by overexposure to the trace metal, manganese (Mn). Although Mn is an essential trace element, its excessive accumulation in the brain as a result of chronic occupational or environmental exposures induces a neurological disorder referred to as manganism, which shares common pathological features with Parkinsonism. Mn decreases the expression and function of both GLAST and GLT-1. Astrocytes are commonly targeted by Mn, and thus reduction in astrocytic glutamate transporter function represents a critical mechanism of Mn-induced neurotoxicity. In this review, we will discuss the role of astrocytic glutamate transporters in neurodegenerative diseases and Mn-induced neurotoxicity.
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PMID:Role of transcription factor yin yang 1 in manganese-induced reduction of astrocytic glutamate transporters: Putative mechanism for manganese-induced neurotoxicity. 2512 39

Our objective was to evaluate the epidemiological and clinical characteristics of amyotrophic lateral sclerosis (ALS) in the Caribbean island of Guadeloupe, using a retrospective study covering 15 years (1996-2011). Sixty-three cases of ALS were reported, with a frequency of 0.93/100,000/year. The incidence was 4.5-fold higher (3.73/100,00/year) on Marie-Galante, a small island in the Guadeloupe archipelago. ALS was associated with Parkinsonism in 23.8% of the cases. Other phenotypes were typical ALS (47.6%), bulbar forms (20.6%), limb-onset variants (6.3%) and ALS associated with frontotemporal dementia (1.6%). Onset of ALS-Parkinsonism was significantly later than in typical forms of ALS (68 vs. 54 years; p = 0.012) and affected males more frequently than did bulbar ALS (80% vs. 23.2%; p = 0.003). After one year of disease duration, the clinical profile of ALS-Parkinsonism included a symmetric akineto-rigid Parkinsonian syndrome unresponsive to levodopa, supranuclear oculomotor palsy (50%), dementia (66.7%) and signs of both lower (100%) and upper (86%) motor neuron involvement, including bulbar signs (100%). In conclusion, a new cluster of ALS-Parkinsonism and a geographical area with a high frequency of ALS were identified in Guadeloupe, suggesting that they result from environmental or genetic factors. Further studies are needed to explore these hypotheses.
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PMID:Clinical varieties and epidemiological aspects of amyotrophic lateral sclerosis in the Caribbean island of Guadeloupe: A new focus of ALS associated with Parkinsonism. 2564 66